北马其顿早孕妇女的 ANXA5 和 VEGFA 基因变异。

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Balkan Journal of Medical Genetics Pub Date : 2024-09-06 eCollection Date: 2024-06-01 DOI:10.2478/bjmg-2024-0006
M Terzikj, Gj Bozhinovski, A Branoski, M Dimkovska, K Kubelka-Sabit, D Plaseska-Karanfilska
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引用次数: 0

摘要

早孕流产(EPL)是最常见的妊娠并发症,在所有临床公认的妊娠并发症中约占 15%。迄今为止,各种母体和胎儿因素都被报道为导致早孕流产的原因。然而,约有 50%的 EPL 病例的确切病因尚未明确,这些病例被称为特发性 EPL。我们的研究旨在检测北马其顿 EPL 患者中 ANXA5 基因中四个不同变体和 VEGFA 基因中两个变体之间的关联。这组妇女与对照组妇女进行了比较,对照组妇女的种族背景相匹配,但未发生过妊娠流产且至少有过一次活产。我们的目的还在于建立一种基于多重单碱基延伸的有效、经济的检测方法。在 190 位经历过 EPL 的妇女和 190 位无妊娠损失史的妇女样本(对照组)中,我们的结果显示,与对照组相比,EPL 妇女中 M2/ANXA5 单倍型杂合子的流行率具有统计学意义(P=0.0006)。在比较 VEGFA 基因变体的基因型频率的分析中,发现患 EPL 的妇女的变体频率普遍较高,但无统计学意义。我们的研究与多项研究结果一致,表明M2和M1 ANXA5单倍型在妊娠丢失患者中更为普遍,并提出了一种经济实惠的特定ANXA5和VEGFA变体基因分型技术。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
ANXA5 and VEGFA Gene Variants in Women with Early Pregnancy Losses from North Macedonia.

Early pregnancy loss (EPL) is the most common pregnancy complication, found in approximately 15% of all clinically recognized pregnancy complications. Up to date, various maternal as well as fetal factors are reported as a cause of EPLs. However, in approximately 50% of EPL cases, the exact cause is not clearly identified and these cases are referred as idiopathic. The aim of our study was to examine the association of four distinct variants in the ANXA5 gene and two variants within the VEGFA gene in a cohort of women with EPLs from North Macedonia. This group was compared to a control group of women matched by ethnic background without pregnancy loss and at least one live birth. We also aimed to establish an effective and cost-efficient method for their detection based on multiplex single-base extension. Among 190 women experiencing EPLs, and 190 samples from women without a history of pregnancy loss (control group), our results demonstrated a statistically significant prevalence of heterozygotes for the M2/ANXA5 haplotype in women with EPLs, compared to the control group (p=0.0006). In the analyses comparing genotypic frequencies for the variants in the VEGFA gene, higher frequencies were generally observed among women experiencing EPLs, however without statistical significance. Our study aligns with multiple studies showing that M2 and M1 ANXA5 haplotypes are more prevalent in patients with pregnancy loss and presents an affordable genotyping technique for the specific ANXA5 and VEGFA variants.

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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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